TY - JOUR
T1 - A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
AU - Cassandrini, Denise
AU - Calevo, Maria Grazia
AU - Tessa, Alessandra
AU - Manfredi, Giovanni
AU - Fattori, Fabiana
AU - Meschini, Maria Chiara
AU - Carrozzo, Rosalba
AU - Tonoli, Emmanuel
AU - Pedemonte, Marina
AU - Minetti, Carlo
AU - Zara, Federico
AU - Santorelli, Filippo M.
AU - Bruno, Claudio
PY - 2006/4/7
Y1 - 2006/4/7
N2 - Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used "last hot-cycle" PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders.
AB - Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used "last hot-cycle" PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders.
KW - Heteroplasmy
KW - Mitochondria
KW - mtDNA
KW - SNaPshot technology
UR - http://www.scopus.com/inward/record.url?scp=33344469159&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33344469159&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2006.01.152
DO - 10.1016/j.bbrc.2006.01.152
M3 - Article
C2 - 16483543
AN - SCOPUS:33344469159
VL - 342
SP - 387
EP - 393
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -